Despite overlap with some of the proband’s clinical features, such as short stature, low weight, psychomotor delay, poor speech, hypotonia, dysmorphic features and other complications including feeding problems, gastroesophageal reflux, cardiovascular defects, hearing loss and lacrimal duct obstruction [30,31,32,33,34,35], the HDAC8 variant does not fully explain the phenotype of this infant female. The gene discussed is HDAC8; the disease is gastroesophageal reflux disease.